Neuropediatrics 2017; 48(04): 247-261
DOI: 10.1055/s-0037-1604154
Review Article
Georg Thieme Verlag KG Stuttgart · New York

Congenital Muscular Dystrophies and Myopathies: An Overview and Update

David C. Schorling
1  Division of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Freiburg, Germany
,
Janbernd Kirschner
1  Division of Neuropediatrics and Muscle Disorders, Medical Center, University of Freiburg, Freiburg, Germany
,
Carsten G. Bönnemann
2  Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, Maryland, United States
› Author Affiliations
Further Information

Publication History

07 June 2017

10 June 2017

Publication Date:
02 July 2017 (eFirst)

Abstract

With continuous deciphering of the genetic background of congenital muscular dystrophies and congenital myopathies, some of the historic classifications based on clinical phenotypes or histopathological similarities have become blurred. With a growing number of associated genes, the general understanding of these disorders is shifting to a more genotype-based classification. Furthermore, establishing of the right genetic diagnosis involves new aspects of clinical care and therapeutic considerations for gene-specific phenotypes and pathology. In this review, we give an overview of the wide spectrum of clinical phenotypes of congenital muscular dystrophies and congenital myopathies, outline diagnostic considerations, and summarize recent advances in research for selected diseases.